Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome
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Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome. / Proschowsky, Helle Friis; Flagstad, Annette; Cirera, Susanna; Jørgensen, Claus Bøttcher; Fredholm, Merete.
In: Journal of Heredity, Vol. 98, No. 5, 2007, p. 539-543.Research output: Contribution to journal › Journal article › Research › peer-review
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TY - JOUR
T1 - Identification of a mutation in the CHAT gene of Old Danish Pointing Dogs affected with congenital myasthenic syndrome
AU - Proschowsky, Helle Friis
AU - Flagstad, Annette
AU - Cirera, Susanna
AU - Jørgensen, Claus Bøttcher
AU - Fredholm, Merete
PY - 2007
Y1 - 2007
N2 - The presence of a recessive inherited muscle disease in Old Danish Pointing Dogs has been well known for years. Comparisons of this disease with myasthenic diseases of other dog breeds and humans have pointed toward a defect in the synthesis of the neurotransmitter acetylcholine possibly due to decreased activity of the enzyme choline acetyltransferase. We sequenced exons 5-18 of the gene encoding choline acetyltransferase (CHAT) in 2 affected and 2 unaffected dogs and identified a G to A missense mutation in exon 6. The mutation causes a valine to methionine substitution and segregates in agreement with the inheritance of the disease. The mutation was not detected in 50 dogs representing 25 other dog breeds. A DNA test has been developed and is now available to the breeders of Old Danish Pointing Dogs.
AB - The presence of a recessive inherited muscle disease in Old Danish Pointing Dogs has been well known for years. Comparisons of this disease with myasthenic diseases of other dog breeds and humans have pointed toward a defect in the synthesis of the neurotransmitter acetylcholine possibly due to decreased activity of the enzyme choline acetyltransferase. We sequenced exons 5-18 of the gene encoding choline acetyltransferase (CHAT) in 2 affected and 2 unaffected dogs and identified a G to A missense mutation in exon 6. The mutation causes a valine to methionine substitution and segregates in agreement with the inheritance of the disease. The mutation was not detected in 50 dogs representing 25 other dog breeds. A DNA test has been developed and is now available to the breeders of Old Danish Pointing Dogs.
U2 - 10.1093/jhered/esm026
DO - 10.1093/jhered/esm026
M3 - Journal article
C2 - 17586598
VL - 98
SP - 539
EP - 543
JO - Journal of Heredity
JF - Journal of Heredity
SN - 0022-1503
IS - 5
ER -
ID: 8086737